A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632802



Internal ID7019613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78628868..78634405hg38UCSC Ensembl
Innerchr13:78628868..78634405hg38UCSC Ensembl
Outerchr13:78628500..78634725hg38UCSC Ensembl
chr13:79203003..79208540hg19UCSC Ensembl
Innerchr13:79203003..79208540hg19UCSC Ensembl
Outerchr13:79202635..79208860hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg385538
hg195538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14806483, essv14806503, essv14806504, essv14806489, essv14806474, essv14806476, essv14806485, essv14806506, essv14806500, essv14806508, essv14806488, essv14806494, essv14806493, essv14806486, essv14806495, essv14806478, essv14806502, essv14806482, essv14806510, essv14806484, essv14806498, essv14806480, essv14806505, essv14806507, essv14806487, essv14806512, essv14806501, essv14806477, essv14806509, essv14806492, essv14806490, essv14806496, essv14806499, essv14806481, essv14806475, essv14806491, essv14806497, essv14806511, essv14806479
SamplesNA18947, NA18592, HG00524, NA18641, NA18639, NA18545, HG02058, HG02069, HG02156, HG02087, HG00448, HG01848, NA18977, NA18640, NA18544, HG00560, HG01871, HG02075, HG01810, HG02165, NA18948, HG01808, HG01029, NA19064, HG00956, HG04173, NA18570, HG02399, HG01811, NA18608, HG01800, HG00631, NA18643, HG02139, HG01862, HG02373, HG02079, HG02116, NA18740
Known GenesRNF219
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632802
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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